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Topic Review
Wilson Disease
Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems.
  • 927
  • 24 Dec 2020
Topic Review
Capillary Malformation-Arteriovenous Malformation Syndrome
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.
  • 927
  • 24 Dec 2020
Topic Review
Scalp-Ear-Nipple Syndrome
Scalp-ear-nipple syndrome, as its name suggests, is a condition characterized by abnormalities of the scalp, ears, and nipples. Less frequently, affected individuals have problems affecting other parts of the body. The features of this disorder can vary even within the same family.
  • 927
  • 24 Dec 2020
Topic Review
FAS Gene
Fas cell surface death receptor
  • 927
  • 25 Dec 2020
Topic Review
TPI1 Gene
Triosephosphate isomerase 1: The TPI1 gene provides instructions for making an enzyme called triosephosphate isomerase 1.
  • 927
  • 25 Dec 2020
Topic Review
Regeneration Mechanisms in Holothurians
Holothurians, or sea cucumbers, belong to the phylum Echinodermata. They show good regenerative abilities. This entry provides an analysis of available data on the molecular aspects of regeneration mechanisms in holothurians. The genes and signaling pathways activated during the asexual reproduction and the formation of the anterior and posterior parts of the body, as well as the molecular mechanisms that provide regeneration of the nervous and digestive systems, are considered here. Damage causes a strong stress response, the signs of which are recorded even at late regeneration stages. In holothurian tissues, the concentrations of reactive oxygen species and antioxidant enzymes increase. Furthermore, the cellular and humoral components of the immune system are activated. Extracellular matrix remodeling and Wnt signaling play a major role in the regeneration in holothurians. All available morphological and molecular data show that the dedifferentiation of specialized cells in the remnant of the organ and the epithelial morphogenesis constitute the basis of regeneration in holothurians. 
  • 927
  • 02 Mar 2021
Topic Review
Electrocochleography in Auditory Neuropathy
Auditory Neuropathy (AN) is characterized by disruption of temporal coding of acoustic signals in auditory nerve fibers resulting in alterations of auditory perceptions. Mutations in several genes have been associated to the most forms of AN. Underlying mechanisms include both pre-synaptic and post-synaptic damage involving inner hair cell (IHC) depolarization, neurotransmitter release, spike initiation in auditory nerve terminals, loss of auditory fibers and impaired conduction. In contrast, outer hair cell (OHC) activities (otoacoustic emissions [OAEs] and cochlear microphonic [CM]) are normal. Disordered synchrony of auditory nerve activity has been suggested as the basis of both the alterations of auditory brainstem responses (ABRs) and reduction of speech perception. Authors will review how electrocochleography (ECochG) recordings provide detailed information to help objectively define the sites of auditory neural dysfunction and their effect on receptor summating potential (SP) and neural compound action potential (CAP), the latter reflecting disorders of ribbon synapses and auditory nerve fibers.
  • 927
  • 30 Jan 2022
Topic Review
RAF1 Gene
Raf-1 proto-oncogene, serine/threonine kinase
  • 926
  • 23 Dec 2020
Topic Review
TBX5 Gene
T-box 5: The TBX5 gene provides instructions for making a protein called T-box 5 that plays an important role in the formation of tissues and organs during embryonic development. 
  • 926
  • 24 Dec 2020
Topic Review
FHL1 Gene
Four and a half LIM domains 1
  • 926
  • 25 Dec 2020
Topic Review
Hydrodynamics-Based Transplacental Delivery of CRISPR/Cas9
We previously demonstrated that transplacental gene delivery (TPGD) method combined with CRISPR/Cas9 system can manipulate fetal genome in situ. Recently, we examined whether the endogenous gene (myosin heavy-chain α, MHCa) can be genome-edited by TPGD in the absence of a gene delivery reagent with potential fetal toxicity. For this, we employed a hydrodynamics-based gene delivery (HGD) system with the aim of ensuring biosafety. We also investigated which embryonic stages are suitable for the induction of genome editing in fetuses. As the results, it was indicated that the HGD-based TPGD of a genome editing vector enables to manipulate the fetal genomes.
  • 925
  • 29 Oct 2020
Topic Review
CASR Gene
calcium sensing receptor
  • 925
  • 24 Dec 2020
Topic Review
PAX8 Gene
paired box 8
  • 925
  • 25 Dec 2020
Topic Review
Predicting Physical Appearance from DNA- Towards Genomic Solutions
The idea of forensic DNA intelligence is to extract from genomic data any information that can help guide the investigation. The advances in understanding the genetics of various human phenotypes, the progress in high-throughput genotyping technologies and machine-learning methods allow the prediction of physical appearance traits. In addition, the evolution of approaches to genetic prediction of physical traits from building predictive models based on variables showing genetic association to variables that improve prediction performance is presented.
  • 925
  • 29 Jan 2022
Topic Review
Gitelman Syndrome
Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.
  • 924
  • 23 Dec 2020
Topic Review
KRT14 Gene
Keratin 14
  • 924
  • 23 Dec 2020
Topic Review
Corticosteroid-Binding Globulin Deficiency
Corticosteroid-binding globulin deficiency is a condition with subtle signs and symptoms, the most frequent being extreme tiredness (fatigue), especially after physical exertion.
  • 924
  • 24 Dec 2020
Topic Review
Costeff Syndrome
Costeff syndrome is an inherited condition characterized by vision loss, delayed development, and movement problems. Vision loss is primarily caused by degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results in vision impairment that worsens over time. Some affected individuals have rapid and involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus).
  • 924
  • 24 Dec 2020
Topic Review
CM Epigenetics
Cutaneous melanoma (CM) is an aggressive neoplasm that evolves from the malignant transformation of neural crest stem cell-derived melanocytes. The etiology of melanoma is multifactorial, and the most prominent factors include genetic predisposition, light skin color, multiple naevi, and excessive exposure to UV. Epigenetic alterations have emerged as essential contributors in the pathogenesis of various human diseases, including CM. Epigenetics is another layer of instructions apart from the genetic code that controls how genes are read and expressed, involving a change in the cell phenotype without changes in the genotype. Epigenetic regulation is an umbrella term that encompasses several mechanisms such as DNA methylation, histone post-translational modifications (PTMs), nucleosome remodeling, histone variants, and RNA-mediated post-transcriptional regulation. Influenced by lifestyle and environmental factors, epigenetic changes are highly dynamic and reversible and thus easy to regulate. 
  • 924
  • 08 Oct 2021
Topic Review
Difficulties in Kinship Analysis in Armed Conflicts
Regarding human identification in armed conflicts, various complications can be observed. Usually, such difficulties can be social-related, which can include the lack of access to the relative’s genetic material, or the unwillingness of administrative and judicial authorities to participate in the process of identification. In the case of genetics, the analysis allows identifying the individual from a blood sample, a part of an organ, or from skeletal remains, which is why it is considered a much more extensive and effective method when compared with fingerprint techniques or odontology. However, several factors can prevent this identification, such as considerably degraded genetic material. For successful identification, it is mandatory to have access to antemortem biological samples unequivocally attributed to the individual in question, using recombinant nuclear markers, as well as using biological samples from close relatives, whether parents or sons. Nevertheless, the problems associated with armed conflicts make this type of study very difficult.
  • 924
  • 05 Jun 2023
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